摘要
目的分析儿童急性白血病的遗传学特征。方法收集2013年10月至2014年10月于郑州大学第一附属医院就诊的100例患儿的骨髓或外周血细胞的遗传学检查资料进行回顾性分析。结果 80例ALL中仅76例有染色体核型检查结果,4例未见分裂相,45例异常,核型异常率为59.21%(45/76),其中染色体数目异常22例(48.89%),结构异常17例(37.78%),同时有数目和结构异常6例,20例AML中15例有克隆性核型异常,核型异常率为75.00%,融合基因检出率为42%(42/100),其中TEL/AML1 15例,PML/RARa 7例,E2A/PBX1 6例,AML1/ETO 4例,MLL基因重排3例,BCR/ABL 2例,二者结合使白血病患儿的遗传学异常检出率提升至69.00%。结论儿童急性白血病具有其独特的细胞遗传学特征,染色体核型分析联合应用多重PCR方法可显著提高白血病患儿遗传学异常检出率,从而指导临床诊断、分型及预后判断。
Objective To study the cytogenetic features of childhood acute leukemia. Methods 100 cases of acute leukemia were enrolled in the study from October of 2013 to October of 2014 in the First Affiliated Hospital of Zhengzhou University. The genetic informations of bone marrow or blood were analyzed. Results There were only 76 cases who had mitosis,4 cases without splitting,45 cases with cytogenetical abnormalities. The rate of chromosomal abnormality was 59. 21%,numeral chromosome abnormalities accounted for 48. 89%（ 22 /76）,while structural abnormalities accounted for 37. 78%（ 17 /76）,6 cases had the both abnormalities,cytogenetical abnormalities were found in 15 cases of AML. The rate of chromosomal abnormality was 75. 00%.The detection rate of gene fusion was 42%（ 42 /100）. TEL / AML1,PML / RARa,E2 A / PBX1,AML1 / ETO,MLL fusion genes and BCR / ABL genes were observed in 15,7,6,4,3 and 2 cases respectively. The multiplex RT-PCR in combination with chromosome analysis could detect genetic abnormalities in 69%. Conclusion Childhood acute leukemia had unique cellular and molecular genetic characteristics. The combination of assay of multiplex RT-PCR and karyotypic analysis was useful for the diagnosis of AL,the evaluation of therapeutic effects and prognosis.
出处
《河南医学研究》
CAS
2015年第1期31-33,共3页
Henan Medical Research
